Varaico: Literature-Extracted Genetic Variants

NF1

4,584 papers

RefSeq Summary

This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leuke...

Pfam Domains

RasGAPaa 1325–1451UCSCGTPase-activator protein for Ras-like GTPase

CRAL_TRIO_2aa 1602–1736UCSCDivergent CRAL/TRIO domain

PH_NF1aa 1737–1831UCSCPH domain-like

Gene Aliases

HGNC Name

neurofibromin 1

HGNC Alias Names

neurofibromatosis; von Recklinghausen disease; Watson disease

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001042492.3

p.G823_I826delFs

c.2467_2476del10

Surrounding Variants

1 paper

NM_001042492.3

p.G822_T831delFs

c.2466_2493del28

1 paper

NM_001042492.3

p.G822R

c.2464G>A

1 paper

NM_001042492.3

p.G822R

c.2464G>C

3 papers

NM_001042492.3

p.G822*

c.2464G>T

1 paper

NM_001042492.3

p.G823fs

c.2467_2468fs

3 papers

NM_001042492.3

p.G823*

c.2467G>T

1 paper

NM_001042492.3

p.G823fs

c.2467_2468fs

3 papers

NM_001042492.3

p.S821R

c.2463T>A

3 papers

NM_001042492.3

p.S821R

c.2463T>G

1 paper

NM_001042492.3

p.S821I

c.2462G>T

3 papers

NM_001042492.3

p.S821R

c.2461A>C

1 paper

NM_001042492.3

p.G824*

c.2470G>T